Japan Bioinformatics Announces Release of a Case Study on Detecting SNPs and Short INDELs

Tokyo Japan (PRWEB) April 25 2013 TOKYO Japan – April 25 2013 – Japan Bioinformatics today announced the release of their case study: Simbiot® ‘How To’: SNP and INDEL Detection. The case study describes several approaches for performing the identification of mutations including single nucleotide polymorphisms (SNPs) short insertions and de

The case study describes several approaches for performing the identification of mutations, including single nucleotide polymorphisms (SNPs), short insertions and deletions (INDELs), as well as other genomic variations such as intermediate and long INDELs, tandem duplications, substitutions and inversions. There is a comparison of different mutation discovery algorithms, an outline of the issues of mutation analysis specific to haploid organisms, and an overview of the process of mutation detection using RNASeq data.

The case study includes four steps for detecting SNPs and short INDELs using NGS data, with a comparison of two of the most popular tools, and a look at some of the complexities in analyzing RNASeq data.

“There is significant confusion in the market regarding how to best analyze and compare NGS data. We are in constant discussions with industry and academic professionals who are looking for solutions to this problem. Simbiot® has helped many customers overcome these data inconsistencies, and be able to offer a truly differentiated, but sound platform for those analyzing genomic data,” said Boris Umylny, President of Japan Bioinformatics.

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